Mutagenetix > Incidental Mutation

Incidental Mutation 'R1950:Ccdc73'

217175

Institutional Source

Beutler Lab

Gene Symbol

Ccdc73

Ensembl Gene

ENSMUSG00000045106

Gene Name

coiled-coil domain containing 73

Synonyms

2210415I11Rik

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.079) question?

Stock #

R1950 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

104716669-104830082 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 104757280 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 81 (I81T)

Ref Sequence

ENSEMBL: ENSMUSP00000106743 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000111114] [ENSMUST00000127840] [ENSMUST00000151764]

AlphaFold

Q8CDM4

Predicted Effect

probably benign
Transcript: ENSMUST00000111114
AA Change: I81T

PolyPhen 2 Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)

SMART Domains

Protein: ENSMUSP00000106743
Gene: ENSMUSG00000045106
AA Change: I81T

Domain	Start	End	E-Value	Type
low complexity region	4	20	N/A	INTRINSIC
Pfam:CCDC73	27	1061	N/A	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000127840
AA Change: I81T

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000115091
Gene: ENSMUSG00000045106
AA Change: I81T

Domain	Start	End	E-Value	Type
low complexity region	4	20	N/A	INTRINSIC
coiled coil region	48	134	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000151764
AA Change: I81T

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000120706
Gene: ENSMUSG00000045106
AA Change: I81T

Domain	Start	End	E-Value	Type
low complexity region	4	20	N/A	INTRINSIC
coiled coil region	48	134	N/A	INTRINSIC
coiled coil region	178	381	N/A	INTRINSIC

Coding Region Coverage

1x: 99.2%
3x: 98.4%
10x: 96.8%
20x: 94.0%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 77 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Akap9	A	G	5: 4,010,677 (GRCm39)	N478S	probably damaging	Het
Als2	T	A	1: 59,224,760 (GRCm39)		probably null	Het
Ankfy1	A	G	11: 72,651,155 (GRCm39)	Y1035C	probably damaging	Het
Ankrd11	T	C	8: 123,616,608 (GRCm39)	T2394A	probably damaging	Het
Axin1	G	C	17: 26,412,938 (GRCm39)	G780R	possibly damaging	Het
Carm1	A	T	9: 21,485,812 (GRCm39)	T127S	probably benign	Het
Cdh12	T	C	15: 21,237,965 (GRCm39)	Y67H	probably damaging	Het
Cfap65	C	A	1: 74,946,819 (GRCm39)	G1297V	probably damaging	Het
Cfap74	T	C	4: 155,511,887 (GRCm39)		probably null	Het
Chit1	A	G	1: 134,078,968 (GRCm39)	Y426C	probably damaging	Het
Clpp	A	G	17: 57,303,039 (GRCm39)		probably benign	Het
Clrn3	T	G	7: 135,115,813 (GRCm39)	Y179S	possibly damaging	Het
Cntn5	A	C	9: 9,781,774 (GRCm39)	M635R	probably damaging	Het
Col12a1	A	T	9: 79,537,831 (GRCm39)	S2546T	possibly damaging	Het
Ctla2b	T	C	13: 61,043,863 (GRCm39)	N102S	possibly damaging	Het
Cwf19l2	A	T	9: 3,418,674 (GRCm39)	I154F	probably benign	Het
Dffa	C	A	4: 149,188,839 (GRCm39)	S44R	probably benign	Het
Ehbp1	T	A	11: 22,009,228 (GRCm39)	K930M	probably damaging	Het
Erc2	T	A	14: 27,634,857 (GRCm39)	S473T	probably damaging	Het
Fbxw24	A	T	9: 109,434,481 (GRCm39)	L373H	probably benign	Het
Fer1l4	T	C	2: 155,890,194 (GRCm39)	I244V	probably damaging	Het
Fgfr2	G	A	7: 129,800,211 (GRCm39)	T245M	probably damaging	Het
Garin1b	C	T	6: 29,335,815 (GRCm39)		probably null	Het
Gbp9	T	A	5: 105,229,112 (GRCm39)	M512L	probably benign	Het
Glg1	T	A	8: 111,892,271 (GRCm39)	K251I	possibly damaging	Het
Gm10553	A	G	1: 85,078,141 (GRCm39)	D86G	possibly damaging	Het
Gm5622	T	C	14: 51,893,229 (GRCm39)	V52A	probably benign	Het
Gucy1b1	A	G	3: 81,952,716 (GRCm39)	V239A	probably benign	Het
Gzma	A	G	13: 113,230,463 (GRCm39)	L246P	probably damaging	Het
Hibadh	C	A	6: 52,533,448 (GRCm39)	A223S	probably benign	Het
Hydin	C	A	8: 111,336,619 (GRCm39)	T5132N	possibly damaging	Het
Insrr	A	G	3: 87,721,820 (GRCm39)	N1198S	probably damaging	Het
Ivl	T	C	3: 92,479,420 (GRCm39)	E215G	possibly damaging	Het
Jmjd1c	A	G	10: 67,075,701 (GRCm39)	D2037G	possibly damaging	Het
Kcna3	G	A	3: 106,944,988 (GRCm39)	C417Y	probably damaging	Het
Klra2	T	C	6: 131,207,078 (GRCm39)	N177S	probably benign	Het
Llgl2	T	C	11: 115,741,892 (GRCm39)	S645P	probably damaging	Het
Lrrc15	T	C	16: 30,092,649 (GRCm39)	E230G	probably benign	Het
Magel2	C	A	7: 62,028,163 (GRCm39)	Q356K	possibly damaging	Het
Mcm6	A	G	1: 128,273,726 (GRCm39)	V368A	probably benign	Het
Myh8	G	A	11: 67,169,830 (GRCm39)	V50M	possibly damaging	Het
Myrf	A	T	19: 10,195,554 (GRCm39)	F419I	possibly damaging	Het
Nrbp1	T	A	5: 31,403,157 (GRCm39)	I210N	probably damaging	Het
Or10ak16	G	A	4: 118,750,537 (GRCm39)	V86M	probably benign	Het
Or52i2	A	G	7: 102,319,684 (GRCm39)	M186V	probably benign	Het
Otud4	G	A	8: 80,372,961 (GRCm39)	R93H	probably damaging	Het
Pank4	T	A	4: 155,056,977 (GRCm39)	M390K	probably benign	Het
Pecam1	A	G	11: 106,576,029 (GRCm39)	V401A	probably damaging	Het
Prdm6	C	A	18: 53,669,796 (GRCm39)	T138K	possibly damaging	Het
Prl2c2	G	C	13: 13,176,786 (GRCm39)	T47R	probably damaging	Het
Prpf8	A	G	11: 75,387,337 (GRCm39)	E1206G	possibly damaging	Het
Prr30	A	T	14: 101,435,377 (GRCm39)	I395N	probably benign	Het
Rab27a	G	A	9: 72,982,751 (GRCm39)	G19R	probably damaging	Het
Ramacl	A	G	13: 67,055,269 (GRCm39)		probably benign	Het
Rrp12	A	G	19: 41,881,029 (GRCm39)	V134A	probably damaging	Het
Scly	A	G	1: 91,233,116 (GRCm39)	T76A	probably benign	Het
Scube3	T	C	17: 28,383,274 (GRCm39)	S439P	possibly damaging	Het
Shf	G	A	2: 122,199,163 (GRCm39)	P51S	probably damaging	Het
Sipa1l1	T	C	12: 82,388,233 (GRCm39)	F153S	probably damaging	Het
Slc25a30	T	G	14: 76,007,007 (GRCm39)	K163T	possibly damaging	Het
Slc26a8	T	A	17: 28,863,614 (GRCm39)	D715V	probably benign	Het
Smr2	AT	ATT	5: 88,256,683 (GRCm39)		probably null	Het
Smr2	C	CT	5: 88,256,685 (GRCm39)		probably null	Het
Sp6	T	G	11: 96,912,940 (GRCm39)	S218A	probably benign	Het
Spata21	T	C	4: 140,838,716 (GRCm39)	V589A	probably damaging	Het
Sycp2	T	C	2: 178,044,593 (GRCm39)	I71V	probably benign	Het
Syne2	G	T	12: 75,999,644 (GRCm39)	G2347C	probably benign	Het
Tenm2	C	T	11: 35,954,004 (GRCm39)	G1236R	possibly damaging	Het
Thbs4	A	T	13: 92,906,079 (GRCm39)	N387K	probably damaging	Het
Tmem184a	T	C	5: 139,793,381 (GRCm39)	D216G	probably damaging	Het
Tprg1	T	A	16: 25,136,098 (GRCm39)	S30T	possibly damaging	Het
Trip12	A	T	1: 84,738,522 (GRCm39)	W778R	probably damaging	Het
Ttpa	T	C	4: 20,008,633 (GRCm39)	L65P	probably damaging	Het
Ush2a	A	T	1: 188,487,382 (GRCm39)	N3050I	probably damaging	Het
Xpot	T	C	10: 121,455,053 (GRCm39)	I30V	probably benign	Het
Zfp944	A	G	17: 22,558,681 (GRCm39)	S189P	probably benign	Het
Zftraf1	A	G	15: 76,543,417 (GRCm39)		probably null	Het

Other mutations in Ccdc73

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00679:Ccdc73	APN	2	104,824,936 (GRCm39)	missense	probably damaging	1.00
IGL01313:Ccdc73	APN	2	104,737,972 (GRCm39)	missense	probably benign	0.00
IGL02016:Ccdc73	APN	2	104,805,961 (GRCm39)	missense	probably benign	0.05
IGL02179:Ccdc73	APN	2	104,737,913 (GRCm39)	missense	probably damaging	0.99
FR4304:Ccdc73	UTSW	2	104,822,185 (GRCm39)	unclassified	probably benign
FR4737:Ccdc73	UTSW	2	104,822,185 (GRCm39)	unclassified	probably benign
IGL03052:Ccdc73	UTSW	2	104,782,281 (GRCm39)	missense	possibly damaging	0.78
R0010:Ccdc73	UTSW	2	104,811,332 (GRCm39)	splice site	probably benign
R0040:Ccdc73	UTSW	2	104,822,429 (GRCm39)	missense	probably damaging	1.00
R0052:Ccdc73	UTSW	2	104,759,915 (GRCm39)	splice site	probably benign
R0360:Ccdc73	UTSW	2	104,811,352 (GRCm39)	missense	probably damaging	1.00
R0401:Ccdc73	UTSW	2	104,821,634 (GRCm39)	missense	probably benign	0.01
R0715:Ccdc73	UTSW	2	104,803,499 (GRCm39)	splice site	probably benign
R0839:Ccdc73	UTSW	2	104,821,442 (GRCm39)	missense	probably benign	0.05
R1129:Ccdc73	UTSW	2	104,822,535 (GRCm39)	missense	possibly damaging	0.51
R1240:Ccdc73	UTSW	2	104,821,906 (GRCm39)	missense	probably benign	0.05
R1478:Ccdc73	UTSW	2	104,745,012 (GRCm39)	missense	possibly damaging	0.93
R1478:Ccdc73	UTSW	2	104,737,955 (GRCm39)	missense	possibly damaging	0.72
R1695:Ccdc73	UTSW	2	104,822,450 (GRCm39)	missense	probably damaging	1.00
R1924:Ccdc73	UTSW	2	104,822,637 (GRCm39)	missense	probably damaging	1.00
R1987:Ccdc73	UTSW	2	104,829,504 (GRCm39)	missense	probably damaging	1.00
R1987:Ccdc73	UTSW	2	104,761,390 (GRCm39)	nonsense	probably null
R2938:Ccdc73	UTSW	2	104,805,980 (GRCm39)	nonsense	probably null
R3420:Ccdc73	UTSW	2	104,782,293 (GRCm39)	splice site	probably null
R3420:Ccdc73	UTSW	2	104,782,292 (GRCm39)	missense	probably null	1.00
R3422:Ccdc73	UTSW	2	104,782,293 (GRCm39)	splice site	probably null
R3422:Ccdc73	UTSW	2	104,782,292 (GRCm39)	missense	probably null	1.00
R3522:Ccdc73	UTSW	2	104,821,830 (GRCm39)	missense	probably damaging	1.00
R3886:Ccdc73	UTSW	2	104,821,688 (GRCm39)	missense	possibly damaging	0.94
R4279:Ccdc73	UTSW	2	104,815,355 (GRCm39)	missense	possibly damaging	0.87
R4791:Ccdc73	UTSW	2	104,811,450 (GRCm39)	splice site	probably null
R4793:Ccdc73	UTSW	2	104,848,127 (GRCm39)	splice site	probably null
R4939:Ccdc73	UTSW	2	104,822,502 (GRCm39)	splice site	probably null
R4950:Ccdc73	UTSW	2	104,822,711 (GRCm39)	missense	probably benign
R5093:Ccdc73	UTSW	2	104,848,111 (GRCm39)	utr 3 prime	probably benign
R5150:Ccdc73	UTSW	2	104,822,384 (GRCm39)	missense	probably benign	0.00
R5381:Ccdc73	UTSW	2	104,820,270 (GRCm39)	missense	probably damaging	1.00
R5738:Ccdc73	UTSW	2	104,761,331 (GRCm39)	missense	possibly damaging	0.78
R6148:Ccdc73	UTSW	2	104,822,482 (GRCm39)	missense	possibly damaging	0.58
R6269:Ccdc73	UTSW	2	104,737,978 (GRCm39)	missense	probably damaging	1.00
R6738:Ccdc73	UTSW	2	104,822,433 (GRCm39)	missense	probably benign	0.00
R6753:Ccdc73	UTSW	2	104,821,869 (GRCm39)	nonsense	probably null
R7062:Ccdc73	UTSW	2	104,782,223 (GRCm39)	missense	probably damaging	1.00
R7110:Ccdc73	UTSW	2	104,803,569 (GRCm39)	missense	probably benign	0.21
R7320:Ccdc73	UTSW	2	104,829,521 (GRCm39)	missense	possibly damaging	0.47
R7436:Ccdc73	UTSW	2	104,782,214 (GRCm39)	missense	probably damaging	1.00
R7530:Ccdc73	UTSW	2	104,824,915 (GRCm39)	missense
R7747:Ccdc73	UTSW	2	104,759,901 (GRCm39)	missense	probably damaging	1.00
R7952:Ccdc73	UTSW	2	104,775,801 (GRCm39)	critical splice donor site	probably null
R8178:Ccdc73	UTSW	2	104,821,557 (GRCm39)	missense	probably benign	0.00
R8824:Ccdc73	UTSW	2	104,822,222 (GRCm39)	missense	possibly damaging	0.74
R8927:Ccdc73	UTSW	2	104,822,542 (GRCm39)	missense
R8928:Ccdc73	UTSW	2	104,822,542 (GRCm39)	missense
R8945:Ccdc73	UTSW	2	104,821,712 (GRCm39)	missense	probably benign	0.03
R9365:Ccdc73	UTSW	2	104,738,011 (GRCm39)	missense	probably damaging	1.00
Z1177:Ccdc73	UTSW	2	104,822,584 (GRCm39)	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- ATGTCTATCACAGAGGTCAGAAG -3'
(R):5'- TCCATACTACCATGAGTTAGAAGG -3'

Sequencing Primer
(F):5'- GTCCTCTGTAAGAGCACCAAGTG -3'
(R):5'- GTGTGTTCAGATAATAGTTTGTC -3'

Posted On

2014-08-01